{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T20:47:27Z","timestamp":1758401247068,"version":"3.40.4"},"reference-count":11,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiology"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>We report the case of a 37-year-old male patient admitted to the cardiac intensive care unit for acute pulmonary edema. He had a history of excessive alcoholic consumption and had had a viral syndrome in the preceding 10 days. A transthoracic echocardiogram revealed severe biventricular dysfunction, mild dilatation of the left heart chambers, and severe dilatation of the right chambers. Nonsustained ventricular tachycardia with a left bundle branch block morphology was detected during electrocardiographic monitoring. In the follow-up, he underwent a contrast-enhanced transthoracic echocardiogram and a cardiac resonance which were compatible with the diagnosis of arrhythmogenic right ventricular cardiomyopathy with biventricular involvement. Molecular analysis detected the mutation c.1423+2T&gt;G (IVS10 ds +2T&gt;G) in intron 10 of the gene &lt;i&gt;DSG2&lt;\/i&gt; (desmoglein-2) in heterozygosity. To our knowledge, this mutation has not been previously described in arrhythmogenic right ventricular cardiomyopathy.<\/jats:p>","DOI":"10.1159\/000369057","type":"journal-article","created":{"date-parts":[[2015,2,9]],"date-time":"2015-02-09T08:18:47Z","timestamp":1423469927000},"page":"159-161","source":"Crossref","is-referenced-by-count":8,"title":["Arrhythmogenic Right Ventricular Cardiomyopathy with Left Ventricular Involvement: A Novel Splice Site Mutation in the &lt;b&gt;&lt;i&gt;DSG2&lt;\/i&gt;&lt;\/b&gt; Gene"],"prefix":"10.1159","volume":"130","author":[{"given":"Marina","family":"Pereira Fernandes","sequence":"first","affiliation":[]},{"given":"Olga","family":"Azevedo","sequence":"additional","affiliation":[]},{"given":"Vitor","family":"Pereira","sequence":"additional","affiliation":[]},{"given":"Lucy","family":"Calvo","sequence":"additional","affiliation":[]},{"given":"Ant\u00f3nio","family":"Louren\u00e7o","sequence":"additional","affiliation":[]}],"member":"127","published-online":{"date-parts":[[2015,2,6]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cpcardiol.2012.12.002"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/nrcardio.2011.173"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.recesp.2012.02.016"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8167.2012.02412.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1159\/000345293"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehq025"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1113"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21064"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/nature11632"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22289"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.105.583674"}],"container-title":["Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/369057","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/369057","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/369057","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:58:08Z","timestamp":1745431088000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000369057"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":11,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2015,3,1]]},"published-print":{"date-parts":[[2015,3,26]]}},"URL":"https:\/\/doi.org\/10.1159\/000369057","archive":["Portico"],"relation":{},"ISSN":["0008-6312","1421-9751"],"issn-type":[{"type":"print","value":"0008-6312"},{"type":"electronic","value":"1421-9751"}],"subject":[],"published":{"date-parts":[[2015]]}}}